N141I (p.Asn141Ile) variant of BBS2 (BBSome complex member BBS2)
N141I (p.Asn141Ile) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
N141I (p.Asn141Ile) variant details
- p.Asn141Ile
- rs144680278
- ClinGen CA395984404
- ClinVar RCV003889734
- 1000Genomes rs144680278
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.82
- CADD 25.90
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available